Ayman A Bakkar, Abdulaziz Alsaedi, Naglaa M Kamal, Enad Althobaiti, Lujain A Aboulkhair, Abdullah M Almalki, Shaima A Alsalmi, Qaydah Alharthi, Sara A Abosabie, Salma As Abosabie
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引用次数: 0
Abstract
Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a neonate (46, XY) with phenotypic female genitalia who presented with significant salt loss with a novel homozygous variant mutation c.745-1G>C p. in StAR gene.
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